Genotype imputation of Metabochip SNPs using a study-specific reference panel of ~4,000 haplotypes in African Americans from the Women's Health Initiative.

@article{Liu2012GenotypeIO,
  title={Genotype imputation of Metabochip SNPs using a study-specific reference panel of ~4,000 haplotypes in African Americans from the Women's Health Initiative.},
  author={Eric Yi Liu and Steven Buyske and Aaron Aragaki and Ulrike Peters and Eric Boerwinkle and Chris Carlson and Cara L. Carty and Dana C. Crawford and Jeff Haessler and Lucia A. Hindorff and Loic Le Marchand and Teri Manolio and Tara Cox Matise and Wei Wang and Charles Kooperberg and Kari E. North and Yun Li},
  journal={Genetic epidemiology},
  year={2012},
  volume={36 2},
  pages={107-17}
}
Genetic imputation has become standard practice in modern genetic studies. However, several important issues have not been adequately addressed including the utility of study-specific reference, performance in admixed populations, and quality for less common (minor allele frequency [MAF] 0.005-0.05) and rare (MAF < 0.005) variants. These issues only recently became addressable with genome-wide association studies (GWAS) follow-up studies using dense genotyping or sequencing in large samples of… CONTINUE READING